FAM3D FAM3 metabolism regulating signaling molecule D [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM3Dprovided by HGNC
Official Full Name: FAM3 metabolism regulating signaling molecule Dprovided by HGNC
Primary source: HGNC:HGNC:18665
See related: Ensembl:ENSG00000198643 MIM:608619; AllianceGenome:HGNC:18665
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EF7; OIT1
Summary: Predicted to enable carbohydrate binding activity. Involved in negative regulation of insulin secretion. Predicted to be located in extracellular region and membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in colon (RPKM 146.4), salivary gland (RPKM 60.2) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p14.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (58633946..58666774, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (58674325..58707258, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (58619673..58652501, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNA methylation-driven gene FAM3D promotes colorectal cancer growth via the ATF4-SESN2-mTORC1 pathway.
Title: DNA methylation-driven gene FAM3D promotes colorectal cancer growth via the ATF4-SESN2-mTORC1 pathway.
Hepatocyte-secreted FAM3D ameliorates hepatic steatosis by activating FPR1-hnRNP U-GR-SCAD pathway to enhance lipid oxidation.
Title: Hepatocyte-secreted FAM3D ameliorates hepatic steatosis by activating FPR1-hnRNP U-GR-SCAD pathway to enhance lipid oxidation.
Targeting cytokine-like protein FAM3D lowers blood pressure in hypertension.
Title: Targeting cytokine-like protein FAM3D lowers blood pressure in hypertension.
FAM3D plays a role in gastrointestinal homeostasis and inflammation through its receptors FPR1 and FPR2.
Title: Identification of FAM3D as a new endogenous chemotaxis agonist for the formyl peptide receptors.
Fam3D is a gut-derived protein that is expressed and secreted in a nutritional status-dependent manner
Title: Oit1/Fam3D, a gut-secreted protein displaying nutritional status-dependent regulation.
Statistical analysis indicated that six genes, NFATC2, SCP2, CACNA1C, TCRA, POLE, and FAM3D, were associated with narcolepsy.
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
A cytokine-like protein found in placenta
Title: Cloning, expression, and initial characterization of a novel cytokine-like gene family.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables cytokine activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein FAM3D

Names: Oncoprotein-induced transcript 1; cytokine-like protein EF-7; family with sequence similarity 3 member D

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.